Are Most Spoonies Suffering from MCAD?
We are in for some awesome educational content today! I know not everyone who is subscribed to the site has a chronic illness but I think a few of you do, so this is for those of you who do. We have an amazing guest post, written by the very talented, Michelle Curtis. Michelle is going to educate us about Mast Cell Activation Disorders (MCAS, MCAD). Mast Cell Activation disorders can be a comorbid condition of ME/CFS, POTS, Fibromyalgia and Hypermobility/EDS. Michelle is an amazing advocate. She will be informing us on what MCAD is, the symptoms, testing for diagnosis and available treatments.
Michelle Curtis is a poet and writer with hEDS, POTS and MCAS. She is managing editor for the Zebra Pit at https://zebrapit.com/about/. where she writes about spoonie health and wellness, as well as art and culture. She has a BA in women, gender and sexuality studies from BGSU and an MFA in creative writing from NU. She lives in greater Cincinnati with her husband David and two Russian Blue beauties. She thoroughly enjoys spending time with her family and friends, reading books, watching movies, art, music and the great outdoors (even when her MCAS doesn’t).
Are Most Spoonies Suffering from MCAD?
Are Mast Cell Activation Disorders (MCAD) being missed and heavily under-diagnosed in a large portion of patients with chronic illness? Could these easily misunderstood conditions be the cause of the rapid fluctuations in your health? Do you start out having a great day, only to have your energy levels plummet within hours or moments of leaving the house or even just eating or bathing? Your wildly fluctuating fatigue levels might be trying to tell you you’re a special kind of spoonie, referred to by some as a Mastie. MCADs are a common comorbid condition to Ehlers-Danlos Syndrome (EDS), Hypermobility Syndrome Disorders (HSD), Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), Postural Orthostatic Tachycardia Syndrome (POTS), Neurally Mediated Hypotension (NMH), Fibromyalgia, Interstitial Cystitis and other spoonie conditions.
Masties are people with Mast Cell Activation Disorders (MCAD) including Mastocytosis and Mast Cell Activation Syndrome (MCAS). This group may also include people with histamine intolerance, who have not met the diagnostic criteria for a mast cell condition, but could also benefit from treatment. You might also be surprised to find that the newly discovered hereditary alpha tryptasemia syndrome may also be a mast cell disorder. Hereditary a-tryptasemia is so new that it doesn’t even have industry wide testing available, yet. However, in a familial study, it was prevalent in family members with a diagnosis of ME/CFS, hEDS, FM, MCAS, POTS, IBS, MCS, dysautonomia, or interstitial cystitis that was studied, while it was absent in their healthy family members. This makes it likely that anyone diagnosed with one of these illnesses actually has hereditary a-tryptasemia syndrome. One can only reason that if these populations all have hereditary a-tryptasemia like those studied, then so too do we likely all have mast cell disorders as the root of our illness.
Before I get too far down the rabbit hole, let’s talk about what MCAD is and how it feels to have one. You might be surprised how familiar the symptoms are.
What are MCADs?
Mast Cell Activation Disorders occur when white blood cells known as mast cells begin to dysfunction. Mast cells are immune cells which are filled with chemical mediators such as histamine, cytokines, heparin, prostaglandins, tumor necrosis factor and many more. In Mastocytosis, a person has too many of these mast cells. In MCAS, they have the proper number. In both syndromes, a malfunctioning immune system can trigger what is known as mast cell degranulation.
The process of degranulation causes the release of these chemical mediators. In healthy people, this is done properly. The cells only release inflammation causing cytokines when the body needs to fight infection or injury and it only releases histamine when exposed to a substance in which the person is actually allergic.
This is not true of people with an MCAD, but each type is a little different. In mastocytosis, there is an overabundance of mast cells present, which can cause an overabundance of mediators. In MCAS, there is a typical number of cells present. In both conditions, these mast cells can become unstable and can trigger excessive degranulation at any time, causing a massive flood of inflammation and histamine to inundate the system.
While the reactions can be pretty spectacular and even life threatening, they can also be mild and almost imperceptible. They can remain that way for years, or decades even, or they can grow over time in severity. It is possible to suffer with a MCAD for years, decades even, without it presenting enough symptoms for most doctors to clearly understand what’s going on, if they’re even aware of this rare condition at all.
What does it feel like to have an MCAD?
There is a long list of possible symptoms when it comes to MCAD. The most important thing to understand is that you neither need to have all of these symptoms, nor do they need to be severe in order to have a MCAD. The Immunology and Allergy Clinics of North America(IACNA) found that “A wide range in frequency and intensity of mast cell activation symptoms exists among individual mast cell disorder patients in their study Patient Perceptions in Mast Cell Disorders. What having an MCAD looks like for each patient is very different. It could be as simple as having chronic heartburn, symptoms of IBS and migraines. It could look like hives, a persistently runny rose and fatigue. It could mean having really bad periods, migraines and dry eyes that burn. We’re all different and the biggest reactions usually begin with the things we’re actually allergic to, which tend to be the more common allergens, such as pollen or pet dander.
On the flipside, you could have most of the symptoms listed below. If this is the case, you have likely had an MCAD for some time and things have really compounded. If one of your other diagnoses explains some of these symptoms, it’s easy to dismiss them. This author did, until her symptoms became undeniable. Unfortunately, this is one of the things that can often lead to missing this diagnosis, as it’s much easier to simply label a patient with ME/CFS or contribute it to a primary diagnosis like EDS. However, MCAS requires very specific treatments and management and the earlier you begin, the better the outcomes. With proper care, a great deal of improvement can be achieved.
[MCAD Symptoms Infographic]
In addition to the many symptoms of MCAD, there are many things which can trigger an MCAD flare. As you can see, many overlap with the list of symptoms, as they actually “trigger” the symptoms and/or a flare in symptoms. [MCAD Triggers]
Why Is MCAD Often Under-Diagnosed?
There are many things that go into missing this diagnosis. It’s not only hard for patients to grasp. It’s difficult for doctors to understand. Allergies are also common and doctors are trained to think of horses (commonly diagnosed illnesses) before they approach zebras (rare diseases). To further complicate matters, disorders like MCAD are rarely taught in medical schools or are only touched on briefly, while some allergists and immunologists don’t even believe that MCAS is a valid and treatable diagnosis, much like MS and many other diseases before they became widely studied and their primary mechanisms and causes understood.
The study on Patient Perceptions in Mast Cell Disorders notes that “Heterogeneous presentation, unfamiliarity with MCADs, and evolution of newly recognized variants may prolong time from symptom onset to diagnosis” and that the average time of diagnosis can span 4-12 years. They add “Mastocytosis patients visited a median of 3 specialists before a diagnosis was made, and nearly half consulted 3 to 6 physicians while seeking a diagnosis. Slightly more than one-third noted more than one specialist type, with dermatology, allergy/immunology, hematology/oncology, and general practice/internal medicine physicians most commonly involved in MCAD diagnosis.”
Patients in the US and EU endure difficulties identifying and accessing health care professionals knowledgeable about MCDs. ISM patients (82%) were troubled by some physicians’ lack of mastocytosis knowledge. Nearly two-thirds of TMS Survey respondents receiving care in the US reported that it was not easy to access good care locally, and 37% had been denied care by a physician because of their MCD. Although 39% were being treated by an MCD specialist, 80% noted the number of US MCD centers was insufficient; 83% reported comfort with the possibility of care managed locally, in conjunction with an MCD specialist. (IACNA)
It is possible to still have an MCAD and test negative, as successful positive testing can be dependent on being in a flare at the time of testing. Just because you have one set of negative tests doesn’t always rule out this complex group of disorders. Additionally, there are new forms of MCAD arriving on scene as new discoveries are made and diagnosis is often missed for this reason as well.
How Does Hereditary Alpha Tryptasemia Relate to MCAD?
As earlier mentioned, hereditary alpha tryptasemia is also characterized as being “associated with MC mediator release symptoms, dysautonomia, and connective tissue disorders, especially joint hypermobility (IACNA).” This is of particular importance because when studied in families who have more than one type of spoonie syndrome in their family, hereditary a-tryptasemia syndrome (having multiple copies of the tryptase gene, TPSAB1, which causes a biochemical difference in people who have it) was found to be present in all symptomatic members of those families.
“Further testing found that individuals containing multiple copies of a tryptase encoding sequence were highly, highly, (highly) likely (p<.000001) to have high tryptase levels. This is the kind of probability that’s probably considered a slam dunk in genetics; everyone who carried multiple copies of this tryptase-producing sequence had high tryptase levels and a wide range of sometimes bizarre symptoms. Plus, the more copies of the sequence an individual had, the worse they were off symptomatically. None of the family members without these sequences had any symptoms.” (Genetic Finding)
I anticipate in time and with the development of widely accessible testing, anyone with one of these diagnoses will eventually receive a new diagnosis, that of hereditary alpha tryptasemia syndrome and that the current diagnoses will either disappear or be used as symptom or subset descriptors of some kind. In time, this will hopefully also translate into more effective therapies for us all as research efforts are focused on these new findings.
While testing isn’t widely available, Gene by Gene offers a TPSAB1 gene testing service to physicians. While there aren’t many physicians currently participating, it’s easy to sign up. More information can be found on the Elevated Tryptase website for patients and physicians who are interested.
Given the involvement of high tryptase levels and the role of mast cell dysfunction in all of these syndromes, it’s hard to draw any conclusion other than yes, we’re all suffering from some form of mast cell dysfunction. Is that mast cell dysfunction a mast cell activation disorder? According to the FAQ released by the NIH, this is an area that still requires more study:
There are many similarities between patients who have been diagnosed with MCAS and those who have hereditary alpha tryptasemia syndrome. Whether hereditary alpha tryptasemia syndrome could be present in a subset of patients with MCAS is not yet known. It is also possible that the increased tryptase itself causes the symptoms without requiring mast cells to be activated, or it could cause an abnormally increased response to otherwise normal mast cell activation, which might explain why so many patients respond to medications that target mast cells and substances released by mast cells.
Some researchers and practitioners aren’t waiting for these studies to be completed. Some are already treating it as if it is, according to what was indicated by the study done on Patient Perceptions in Mast Cell Disorders. And this is a great thing, given that even the NIH admits that these patients respond well to treatments traditionally applied to mast cell disorders.
Of course this muddies the waters a bit about what having an MCAD actually looks like when including hereditary a-tryptasemia in the mix. Is it possible to have only the symptoms of IBS or Fibromyalgia and have MCAD? In this new world of hereditary a-tryptasemia, it certainly seems so.
I Think I Have a MCAD. What Do I Do?
If you think you might be battling a MCAD, talk to your general practitioner about getting your tryptase levels checked and seeing a qualified immunologist/allergist for evaluation. There are many treatment options available which include prescription medication, over the counter medication and holistic options. There are also ways in which one can protect themselves from exposure to triggers, such as wearing a mask when the probability of exposure to respiratory triggers is high.
Even if you don’t think you qualify for a MCAD diagnosis and have one of the currently used diagnoses that could mean you have hereditary a-tryptasemia, you could benefit from some of the treatments used for MCADs, most especially a bioflavinoid like vitamin C or quercetin. These substances mediate mast cell degranulation and have potent antioxidant properties which reduce inflammation and symptoms like brain fog and fatigue while also helping to boost the immune system. Since they are easily obtainable over the counter items, you can also use them while waiting to be evaluated by a physician. Treatment options will be addressed further in my next post on MCAS.
While MCAD’s can be rather complex to diagnose and treat, it is quite possible to get relief with treatment. Given the nature of hereditary a-trytasemia, it is likely that anyone with a diagnosis of ME/CFS, hEDS, FM, MCAS, POTS, IBS, MCS, IBS, dysautonomia, or interstitial cystitis suffers from some level of mast cell dysfunction. Until further testing is completed, it’s difficult to tell exactly how or to what extant. If you suffer from any of the signs and symptoms, be sure to get evaluated by an Immunologist/allergist who can help treat and diagnose a MCAD to protect your health.
- Michelle Curtis -
The Zebra Pit
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